eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| rieger anomaly | ||||
| Disease ID | 837 |
|---|---|
| Disease | rieger anomaly |
| Definition | A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. [HPO:probinson] |
| Synonym | anomaly, rieger's axenfeld syndrome axenfeld's syndrome axenfelds syndrome iridogoniodysgenesis with somatic anomalies rieger syndrome rieger syndrome (disorder) rieger's anomaly rieger's syndrome riegers syndrome |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0265341 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0017601 | glaucoma | 3 C0005744 | blepharophimosis | 2 C0005745 | ptosis | 2 C0027341 | nail-patella syndrome | 1 C0017605 | angle closure glaucoma | 1 C0020676 | hypothyroidism | 1 C0010308 | congenital hypothyroidism | 1 C0027341 | nail patella syndrome | 1 C0270612 | leukoencephalopathy | 1 C0020302 | congenital glaucoma | 1 C0019322 | umbilical hernia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 837 |
|---|---|
| Disease | rieger anomaly |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0000501 | Glaucoma | 3 HP:0000508 | Drooping upper eyelid | 2 HP:0001627 | Congenital heart defects | 2 HP:0000581 | Blepharophimosis | 2 HP:0001087 | Childhood glaucoma | 1 HP:0000557 | Buphthalmos | 1 HP:0000851 | Congenital hypothyroidism | 1 HP:0007676 | Hypoplasia of the iris | 1 HP:0002352 | Leukoencephalopathy | 1 HP:0100790 | Hernia | 1 HP:0009918 | Displaced pupil | 1 HP:0000558 | Rieger anomaly | 1 HP:0000821 | Underactive thyroid | 1 HP:0001297 | Cerebral vascular events | 1 HP:0001537 | Umbilical hernias | 1 |
| Disease ID | 837 |
|---|---|
| Disease | rieger anomaly |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893858 | 11929847 | 1746 | DLX2 | umls:C0265341 | BeFree | This mutation is associated with iris hypoplasia (IH); in contrast a Rieger syndrome mutation, PITX2 T68P, which presents clinically with the full spectrum of developmental anomalies (including tooth anomalies), is unable to transactivate the Dlx2 promoter. | 0.000271442 | 2002 | PITX2 | 4 | 110621214 | T | G |
| rs397515453 | 23810379 | 5295 | PIK3R1 | umls:C0265341 | BeFree | Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome). | 0.000542884 | 2013 | PIK3R1 | 5 | 68296301 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 837 |
|---|---|
| Disease | rieger anomaly |
| Case | (Waiting for update.) |